ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830426989
Gene: SPMIP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2488099
ClinVar RCV Id:
RCV004548483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950247.2:p.Val4Phe
CA8084044
NM_199046.2:c.10G>T